SPATA31B1P (SPATA31 subfamily B member 1, pseudogene) - Rat Genome Database

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Gene: SPATA31B1P (SPATA31 subfamily B member 1, pseudogene) Homo sapiens
Analyze
Symbol: SPATA31B1P
Name: SPATA31 subfamily B member 1, pseudogene
RGD ID: 1349918
HGNC Page HGNC:31411
Description:
Type: pseudo (Ensembl: unprocessed_pseudogene)
RefSeq Status: INFERRED
Previously known as: bA388B24.2; C9orf36B; chromosome 9 open reading frame 36b; FAM75B; SPATA31 subfamily B, member 1, pseudogene; SPATA31B1
Related Functional Gene: SPATA31A1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38982,057,397 - 82,063,844 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl982,057,647 - 82,063,682 (-)EnsemblGRCh38hg38GRCh38
GRCh37984,672,312 - 84,678,759 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36983,865,480 - 83,866,824 (-)NCBINCBI36Build 36hg18NCBI36
Celera955,242,850 - 55,248,885 (-)NCBICelera
Cytogenetic Map9q21.32NCBI
HuRef954,496,898 - 54,503,041 (-)NCBIHuRef
CHM1_1984,819,120 - 84,825,197 (-)NCBICHM1_1
T2T-CHM13v2.0994,207,031 - 94,213,479 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q21.31-21.32(chr9:81051602-82804697)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052232]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052232]|See cases [RCV000052232] Chr9:81051602..82804697 [GRCh38]
Chr9:83666517..85419612 [GRCh37]
Chr9:82856337..84609432 [NCBI36]
Chr9:9q21.31-21.32		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:314
Count of miRNA genes:283
Interacting mature miRNAs:293
Transcripts:ENST00000376458, ENST00000434692
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium
Low 1 6 1 1 4 332 1 1
Below cutoff 220 221 262 31 124 18 420 233 988 23 173 84 13 89 310

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000434692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl982,057,647 - 82,063,682 (-)Ensembl
RefSeq Acc Id: NM_001098807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
Build 36983,865,480 - 83,866,824 (-)NCBI Archive
RefSeq Acc Id: XR_428632
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38982,057,542 - 82,063,724 (-)NCBI
RefSeq Acc Id: XR_432504
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
CHM1_1984,819,015 - 84,825,197 (-)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC SPATA31B1P COSMIC
Ensembl Genes ENSG00000231649 Ensembl, ENTREZGENE
GTEx ENSG00000231649 GTEx
HGNC ID HGNC:31411 ENTREZGENE
Human Proteome Map SPATA31B1P Human Proteome Map
NCBI Gene 404770 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 SPATA31B1P  SPATA31 subfamily B member 1, pseudogene    SPATA31 subfamily B, member 1, pseudogene  Symbol and/or name change 5135510 APPROVED
2016-02-29 SPATA31B1P  SPATA31 subfamily B, member 1, pseudogene  FAM75B  family with sequence similarity 75, member B  Symbol and/or name change 5135510 APPROVED